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Oncology NGS Report v.2.0

For research use only

Sample: syn3-normal

Project: bcbio postproc dream chr21, hg19
Patient: unknown
Coverage interval: regional, total size 1678843 bp

Mutations    Alterations in actionable genes    Circos plot    Seq2C log2 ratios (CNV)     Coverage analysis    

Mutations

No variants detected.

Actionable genes - variants and larger alterations of interest

No variations found in actionable genes.

Circos plot

Circos plot displays the following genomic data: CNVs, SNPs and structural variants. The outer ring indicates the chromosomes and distances in Mb. The next ring indicates the copy number information. Color scheme correspond to Seq2C plot colors.

The innermost ring represents CNV according to Seq2C: amplifications and deletions in key genes, amplifications and deletions in other genes. Vertical offset represents the log ratio of the gene coverage.

SNP track represents the allele frequency of the SNPs (from 0 to 100%), classes are represented by color: known, likely, unknown (in key genes); known, likely, unknown (in other genes). Vertical offset represents allele frequency of the SNPs (from 0 to 100%).

Archs represent chromosomal rearrangements.

Click on the chromosome header to zoom into a chromosome. Compare all samples

Seq2C log2 ratios (CNV)

No Seq2C events found.

Coverage analysis for 300 key genes

Height indicates gene average coverage, green means that > 90% gene is covered at 37x (half of global average coverage). More detailed plot for each gene is expanded by clicking on the corresponding point.

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"ENST00000475779", "ENST00000497305", "ENST00000466812", "ENST00000400501", "ENST00000563121", "ENST00000467764", "ENST00000582361", "ENST00000481230", "ENST00000491623", "ENST00000543255", "ENST00000465581", "ENST00000546983", "ENST00000485180", "ENST00000497222", "ENST00000420577", "ENST00000583932", "ENST00000478546", "ENST00000544103", "ENST00000461706", "ENST00000264033", "ENST00000433483", "ENST00000557648", "ENST00000509765", "ENST00000428014", "ENST00000451331", "ENST00000324803", "ENST00000482838", "ENST00000303577", "ENST00000587328", "ENST00000396043", "ENST00000469894", "ENST00000523260", "ENST00000403336", "ENST00000466738", "ENST00000459743", "ENST00000461014", "ENST00000585978", "ENST00000412450", "ENST00000498907", "ENST00000537057", "ENST00000514164", "ENST00000591106", "ENST00000527181", "ENST00000503591", "ENST00000553736", "ENST00000459774", "ENST00000477947", "ENST00000334134", "ENST00000480323", "ENST00000484879", "ENST00000384835", "ENST00000566078", "ENST00000485503", "ENST00000540499", "ENST00000469188", "ENST00000590776", "ENST00000533776", "ENST00000585465", "ENST00000456729", "ENST00000462255", "ENST00000442430", "ENST00000560704", "ENST00000330315", "ENST00000470206", "ENST00000497519", "ENST00000485914", "ENST00000497090", "ENST00000596221", "ENST00000508084", "ENST00000452382", "ENST00000462899", "ENST00000543390", "ENST00000347978", "ENST00000462687", "ENST00000414174", "ENST00000465335", "ENST00000556251", "ENST00000482021", "ENST00000307940", "ENST00000586253", "ENST00000518057", "ENST00000343677", "ENST00000561317", "ENST00000589214", "ENST00000541118", "ENST00000429009", "ENST00000519469", "ENST00000482101", "ENST00000391791", "ENST00000512959", "ENST00000482622", "ENST00000532781", "ENST00000397789", "ENST00000556131", "ENST00000403284", "ENST00000464710", "ENST00000498339", "ENST00000513736", "ENST00000568255", "ENST00000460207", "ENST00000507148", "ENST00000237837", "ENST00000472832", "ENST00000599284", "ENST00000498026", "ENST00000479509", "ENST00000439640", "ENST00000371761", "ENST00000512566", "ENST00000484556", "ENST00000442489", "ENST00000450953", "ENST00000552054", "ENST00000539357", "ENST00000479423", "ENST00000406659", "ENST00000486748", "ENST00000541542", "ENST00000462537", "ENST00000469930", "ENST00000461472", "ENST00000586308", "ENST00000468052", "ENST00000411960", "ENST00000359033", "ENST00000574121", "ENST00000370800", "ENST00000476059", "ENST00000488981", "ENST00000338270", "ENST00000512381", "ENST00000561962", "ENST00000586921", "ENST00000604095", "ENST00000581582", "ENST00000380381", "ENST00000491250", "ENST00000498037", "ENST00000488282", "ENST00000551425", "ENST00000495775", "ENST00000491649", "ENST00000605656", "ENST00000512258", "ENST00000555564", "ENST00000527775", "ENST00000380874", "ENST00000498122", "ENST00000473292", "ENST00000539462", "ENST00000536783", "ENST00000263253", "ENST00000397006", "ENST00000547853", "ENST00000475602", "ENST00000527848", "ENST00000424867", "ENST00000434194", "ENST00000518208", "ENST00000566326", "ENST00000400790", "ENST00000542565", "ENST00000496382", "ENST00000490179", "ENST00000413998", "ENST00000503413", "ENST00000524204", "ENST00000587061", "ENST00000294312", "ENST00000470173", "ENST00000469068", "ENST00000581055", "ENST00000513107", "ENST00000467863", "ENST00000562118", "ENST00000444261", "ENST00000258829", "ENST00000569110", "ENST00000492690", "ENST00000508832", "ENST00000550388", "ENST00000573163", "ENST00000415839", "ENST00000478647", "ENST00000489037", "ENST00000487688", "ENST00000480571", "ENST00000487310", "ENST00000371244", "ENST00000411677", "ENST00000509953", "ENST00000265538", "ENST00000377115", "ENST00000547610", "ENST00000433757", "ENST00000481256", "ENST00000475698", "ENST00000340398", "ENST00000540425", "ENST00000558569", "ENST00000520751", "ENST00000467323", "ENST00000495499", "ENST00000591301", "ENST00000411819", "ENST00000562239", "ENST00000479913", "ENST00000466825", 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Gene Chr Depth % cov at 37x
ABL1 9 0 0
ACVR1B 12 0 0
ACVR2A 2 0 0
ACVRL1 12 0 0
AGTR2 X 0 0
AJUBA 14 0 0
AKT1 14 0 0
AKT1S1 19 0 0
AKT2 19 0 0
AKT3 1 0 0
ALK 2 0 0
AMER1 X 0 0
APC 5 0 0
AR X 0 0
ARAF X 0 0
ARHGAP35 19 0 0
ARID1A 1 0 0
ARID1B 6 0 0
ARID2 12 0 0
ARID5B 10 0 0
ASXL1 20 0 0
ATM 11 0 0
ATR 3 0 0
ATRX X 0 0
AXIN2 17 0 0
B4GALT3 1 0 0
BAP1 3 0 0
BCL2L1 20 0 0
BCL9 1 0 0
BRAF 7 0 0
BRCA1 17 0 0
BRCA2 13 0 0
BRD2 6 0 0
BRD3 9 0 0
BRD4 19 0 0
BRD9 5 0 0
BRIP1 17 0 0
CBFB 16 0 0
CBL 11 0 0
CCND1 11 0 0
CCND2 12 0 0
CCND3 6 0 0
CCNE1 19 0 0
CDH1 16 0 0
CDK12 17 0 0
CDK4 12 0 0
CDK6 7 0 0
CDK8 13 0 0
CDK9 9 0 0
CDKN1A 6 0 0
CDKN1B 12 0 0
CDKN2A 9 0 0
CDKN2B 9 0 0
CDKN2C 1 0 0
CEBPA 19 0 0
CHEK1 11 0 0
CHEK2 22 0 0
CRIPAK 4 0 0
CRKL 22 0 0
CSNK2A1 20 0 0
CTCF 16 0 0
CTNNB1 3 0 0
CYP2D6 22 0 0
DCUN1D1 3 0 0
DDR1 6 0 0
DDR2 1 0 0
DEPTOR 8 0 0
DNMT3A 2 0 0
EGFR 7 0 0
EGR3 8 0 0
EIF4A2 3 0 0
ELF3 1 0 0
EP300 22 0 0
EPHA3 3 0 0
EPHB6 7 0 0
EPPK1 8 0 0
ERAS X 0 0
ERBB2 17 0 0
ERBB3 12 0 0
ERBB4 2 0 0
ERCC1 19 0 0
ERCC2 19 0 0
ERRFI1 1 0 0
ESR1 6 0 0
EZH2 7 0 0
FAM175A 4 0 0
FBXW7 4 0 0
FGF1 5 0 0
FGF10 5 0 0
FGF12 3 0 0
FGF14 13 0 0
FGF19 11 0 0
FGF2 4 0 0
FGF23 12 0 0
FGF3 11 0 0
FGF4 11 0 0
FGF5 4 0 0
FGF6 12 0 0
FGF7 15 0 0
FGF8 10 0 0
Gene Chr Depth % cov at 37x
FGF9 13 0 0
FGFR1 8 0 0
FGFR2 10 0 0
FGFR3 4 0 0
FGFR4 5 0 0
FKBP1A 20 0 0
FLT3 13 0 0
FOXA1 14 0 0
FOXA2 20 0 0
FOXC1 6 0 0
FOXL2 3 0 0
FRS2 12 0 0
GAS6 13 0 0
GATA3 10 0 0
GNA11 19 0 0
GNA13 17 0 0
GNAQ 9 0 0
GNAS 20 0 0
H3F3C 12 0 0
HGF 7 0 0
HIST1H1C 6 0 0
HIST1H2BD 6 0 0
HNF1A 12 0 0
HRAS 11 0 0
IDH1 2 0 0
IDH2 15 0 0
IGF1R 15 0 0
IL6 7 0 0
INPP4A 2 0 0
INPP4B 4 0 0
IRAK4 12 0 0
JAK1 1 0 0
JAK2 9 0 0
JAK3 19 0 0
KDM5C X 0 0
KDM6A X 0 0
KDR 4 0 0
KEAP1 19 0 0
KIT 4 0 0
KMT2B 19 0 0
KMT2C 7 0 0
KMT2D 12 0 0
KRAS 12 0 0
LAMP1 13 0 0
LIFR 5 0 0
LRRK2 12 0 0
MALAT1 11 0 0
MAP2K1 15 0 0
MAP2K2 19 0 0
MAP2K4 17 0 0
MAP3K1 5 0 0
MAP3K13 3 0 0
MAP3K8 10 0 0
MAPK1 22 0 0
MAPK3 16 0 0
MAPK8IP1 11 0 0
MAPKAP1 9 0 0
MCL1 1 0 0
MDM2 12 0 0
MDM4 1 0 0
MECOM 3 0 0
MED12 X 0 0
MET 7 0 0
MGA 15 0 0
MIR142 17 0 0
MITF 3 0 0
MLH1 3 0 0
MLH3 14 0 0
MLST8 16 0 0
MPL 1 0 0
MRAS 3 0 0
MSH2 2 0 0
MSH3 5 0 0
MSH6 2 0 0
MTOR 1 0 0
MUTYH 1 0 0
MYC 8 0 0
MYCL 1 0 0
MYCN 2 0 0
MYH9 22 0 0
NAV3 12 0 0
NCOR1 17 0 0
NCOR2 12 0 0
NF1 17 0 0
NF2 22 0 0
NFE2L2 2 0 0
NFE2L3 7 0 0
NKX2-1 14 0 0
NKX2-8 14 0 0
NOTCH1 9 0 0
NPM1 5 0 0
NRAS 1 0 0
NRG1 8 0 0
NSD1 5 0 0
PAK1 11 0 0
PALB2 16 0 0
PBRM1 3 0 0
PCBP1 2 0 0
PDGFRA 4 0 0
PDPK1 16 0 0
Gene Chr Depth % cov at 37x
PHF6 X 0 0
PHLPP1 18 0 0
PHLPP2 16 0 0
PIK3C2B 1 0 0
PIK3C2G 12 0 0
PIK3C3 18 0 0
PIK3CA 3 0 0
PIK3CB 3 0 0
PIK3CD 1 0 0
PIK3CG 7 0 0
PIK3R1 5 0 0
PIK3R2 19 0 0
PIM1 6 0 0
PIM2 X 0 0
PIM3 22 0 0
PMS1 2 0 0
PMS2 7 0 0
POLD1 19 0 0
POLE 12 0 0
POLQ 3 0 0
PPP2R1A 19 0 0
PPP2R2A 8 0 0
PRKAA1 5 0 0
PRKAA2 1 0 0
PRKAB1 12 0 0
PRX 19 0 0
PTCH1 9 0 0
PTEN 10 0 0
PTPN11 12 0 0
PTPN6 12 0 0
RAC1 7 0 0
RAD21 8 0 0
RAD51B 14 0 0
RAD51C 17 0 0
RAD51D 17 0 0
RAF1 3 0 0
RASA1 5 0 0
RB1 13 0 0
RBM10 X 0 0
RELN 7 0 0
RET 10 0 0
RHEB 7 0 0
RHOA 3 0 0
RICTOR 5 0 0
RIT1 1 0 0
ROS1 6 0 0
RPL22 1 0 0
RPL5 1 0 0
RPS6 9 0 0
RPS6KB1 17 0 0
RPS6KB2 11 0 0
RPTOR 17 0 0
RUNX1 21 0.01 0
SETBP1 18 0 0
SETD2 3 0 0
SF3B1 2 0 0
SGK1 6 0 0
SGK2 20 0 0
SGK3 8 0 0
SHOC2 10 0 0
SIN3A 15 0 0
SMAD2 18 0 0
SMAD4 18 0 0
SMARCA4 19 0 0
SMARCB1 22 0 0
SMC1A X 0 0
SMC3 10 0 0
SMO 7 0 0
SOS1 2 0 0
SOX17 8 0 0
SOX2 3 0 0
SOX9 17 0 0
SPOP 17 0 0
SPRED1 15 0 0
SRY Y 0 0
STAG2 X 0 0
STAT3 17 0 0
STK11 19 0 0
TAF1 X 0 0
TBL1XR1 3 0 0
TBX3 12 0 0
TERT 5 0 0
TET2 4 0 0
TFRC 3 0 0
TGFBR2 3 0 0
TIAF1 17 0 0
TLR4 9 0 0
TOP2A 17 0 0
TP53 17 0 0
TSC1 9 0 0
TSC2 16 0 0
TSHZ2 20 0 0
TSHZ3 19 0 0
U2AF1 21 45.08 8460.48 %
USP9X X 0 0
VEZF1 17 0 0
VHL 3 0 0
WEE1 11 0 0
WT1 11 0 0
ZNF217 20 0 0